New markers for linkage analysis of X-linked hypophosphataemic rickets

P S Rowe; J Goulding; A Read; R Mountford; A Hanauer; C Oudet; M P Whyte; S Meier-Ewert; H Lehrach; K E Davies

doi:10.1007/BF00205082

New markers for linkage analysis of X-linked hypophosphataemic rickets

Hum Genet. 1993 Jul;91(6):571-5. doi: 10.1007/BF00205082.

Authors

P S Rowe¹, J Goulding, A Read, R Mountford, A Hanauer, C Oudet, M P Whyte, S Meier-Ewert, H Lehrach, K E Davies, et al.

Affiliation

¹ Middlesex Hospital, London, UK.

PMID: 8101831
DOI: 10.1007/BF00205082

Abstract

Three polymorphic markers have been used to improve the genetic map of the region Xp22.1-p22.2, which contains the HYP (hypophosphataemic rickets) locus. DXS365 gave no recombinants with HYP, with a peak Lod score of 5.4 at theta = 0.0. A microsatellite marker mPA274 was derived for the DXS274 locus; it detects five alleles with a polymorphism information content of 0.55. Combining information from this microsatellite and the original DXS274 marker, probe CRI-L1391, the peak Lod score for DXS274 against HYP was 9.6 at theta = 0.02. A microsatellite associated with the DXS207 locus (mPA207) gave a peak lod score against HYP of 4.7 at theta = 0.14. A consideration of key recombinants and multilocus analysis suggests the gene order. Xpter-DXS207-DXS43-DXS197-(DXS365,HYP)- DXS274-DXS41-Xcen.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Female
Genetic Linkage*
Genetic Markers*
Humans
Hypophosphatemia, Familial / genetics*
Lod Score
Male
Molecular Sequence Data
Polymorphism, Restriction Fragment Length
Sequence Tagged Sites
X Chromosome*

Substances

Genetic Markers